Incidental Mutation 'IGL02022:Dennd2d'
| ID |
184000 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dennd2d
|
| Ensembl Gene |
ENSMUSG00000027901 |
| Gene Name |
DENN domain containing 2D |
| Synonyms |
2010308M01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL02022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106389745-106410346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106407220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 424
(T424A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029508]
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000183271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029508
AA Change: T414A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: T414A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
uDENN
|
47 |
139 |
4.15e-27 |
SMART |
|
DENN
|
146 |
330 |
8.1e-71 |
SMART |
|
dDENN
|
368 |
435 |
3.38e-18 |
SMART |
|
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039153
|
| SMART Domains |
Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
81 |
229 |
6.4e-23 |
PFAM |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
transmembrane domain
|
316 |
338 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061206
AA Change: T417A
|
| SMART Domains |
Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: T417A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
uDENN
|
50 |
142 |
4.15e-27 |
SMART |
|
DENN
|
149 |
333 |
8.1e-71 |
SMART |
|
dDENN
|
371 |
438 |
3.38e-18 |
SMART |
|
low complexity region
|
450 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068301
|
| SMART Domains |
Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
81 |
328 |
3.2e-21 |
PFAM |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121231
|
| SMART Domains |
Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
83 |
158 |
7.4e-18 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
304 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183271
AA Change: T424A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: T424A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
uDENN
|
57 |
149 |
4.15e-27 |
SMART |
|
DENN
|
156 |
340 |
8.1e-71 |
SMART |
|
dDENN
|
378 |
445 |
3.38e-18 |
SMART |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195305
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,120,358 (GRCm39) |
Y160C |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,412,999 (GRCm39) |
S314P |
probably damaging |
Het |
| Abra |
T |
C |
15: 41,732,802 (GRCm39) |
H88R |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,987,617 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,251,886 (GRCm39) |
C123G |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,547,171 (GRCm39) |
|
probably null |
Het |
| Cnot7 |
G |
T |
8: 40,952,386 (GRCm39) |
P190T |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,212,031 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
| Efhd1 |
G |
A |
1: 87,192,334 (GRCm39) |
E55K |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,495,638 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Klhl3 |
A |
T |
13: 58,198,878 (GRCm39) |
S201T |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,953 (GRCm39) |
F219S |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,172 (GRCm39) |
D751N |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,629 (GRCm39) |
C1848* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,284,842 (GRCm39) |
|
probably null |
Het |
| Med10 |
T |
C |
13: 69,961,819 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,592,593 (GRCm39) |
T170S |
probably damaging |
Het |
| Or52n3 |
T |
C |
7: 104,530,141 (GRCm39) |
C76R |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,297,153 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,367,963 (GRCm39) |
V1595I |
probably benign |
Het |
| Prpf8 |
C |
T |
11: 75,392,660 (GRCm39) |
R1617* |
probably null |
Het |
| Rabep1 |
T |
A |
11: 70,825,385 (GRCm39) |
L684Q |
probably damaging |
Het |
| Slc22a4 |
G |
A |
11: 53,874,435 (GRCm39) |
|
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,037 (GRCm39) |
F153S |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,939,062 (GRCm39) |
|
probably null |
Het |
| Unc80 |
G |
T |
1: 66,665,675 (GRCm39) |
R1814L |
possibly damaging |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,987 (GRCm39) |
D179N |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,236,126 (GRCm39) |
E1199G |
probably benign |
Het |
| Zic1 |
C |
A |
9: 91,244,525 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dennd2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Dennd2d
|
APN |
3 |
106,407,861 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL01397:Dennd2d
|
APN |
3 |
106,394,365 (GRCm39) |
critical splice donor site |
probably null |
0.00 |
|
IGL01410:Dennd2d
|
APN |
3 |
106,398,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02032:Dennd2d
|
APN |
3 |
106,398,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Dennd2d
|
APN |
3 |
106,402,284 (GRCm39) |
missense |
probably benign |
|
|
R0140:Dennd2d
|
UTSW |
3 |
106,399,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0648:Dennd2d
|
UTSW |
3 |
106,407,871 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1519:Dennd2d
|
UTSW |
3 |
106,399,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Dennd2d
|
UTSW |
3 |
106,394,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Dennd2d
|
UTSW |
3 |
106,394,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1674:Dennd2d
|
UTSW |
3 |
106,399,833 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2179:Dennd2d
|
UTSW |
3 |
106,399,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Dennd2d
|
UTSW |
3 |
106,407,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Dennd2d
|
UTSW |
3 |
106,389,939 (GRCm39) |
unclassified |
probably benign |
|
|
R4134:Dennd2d
|
UTSW |
3 |
106,389,977 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4135:Dennd2d
|
UTSW |
3 |
106,389,977 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5214:Dennd2d
|
UTSW |
3 |
106,393,637 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5767:Dennd2d
|
UTSW |
3 |
106,395,131 (GRCm39) |
intron |
probably benign |
|
|
R6001:Dennd2d
|
UTSW |
3 |
106,399,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dennd2d
|
UTSW |
3 |
106,402,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Dennd2d
|
UTSW |
3 |
106,398,579 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7593:Dennd2d
|
UTSW |
3 |
106,407,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Dennd2d
|
UTSW |
3 |
106,393,580 (GRCm39) |
missense |
probably benign |
|
|
R9103:Dennd2d
|
UTSW |
3 |
106,397,684 (GRCm39) |
missense |
|
|
|
R9341:Dennd2d
|
UTSW |
3 |
106,397,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Dennd2d
|
UTSW |
3 |
106,397,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9388:Dennd2d
|
UTSW |
3 |
106,395,915 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Dennd2d
|
UTSW |
3 |
106,407,190 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation